RESUMEN

We present the first cirrhotic patient who underwent liver transplantation (LT) and presented a hepatic artery thrombosis of the graft due to Aspergillus fumigatus, within the first month of LT. This culminated in graft loss, re-transplant with multiple biliary and infectious complications. To our knowledge, this is a case report of an early hepatic artery thrombosis due to Aspergillus fumigatus in an infection-free patient.

RESUMEN

BACKGROUND Lysosomal acid lipase deficiency is a rare genetic metabolic lipid storage disease, with a high morbidity, and mortality, in children and adults. It is characterized by a mutation in the LIPA gene that causes an alteration of lipid metabolism, resulting in deposits of cholesterol esters and triglycerides in organs such as the liver, blood vessels, and gastrointestinal tract. Lysosomal acid lipase deficiency is predominantly caused by the mutation c.894G>A, seen in approximately 50-70% of patients. Our objective is to report the first pediatric case of lysosomal acid lipase deficiency in a pediatric patient in Colombia. CASE REPORT The patient is a 14-year-old boy with isolated hepatomegaly since 6 years of age without a family history of dyslipidemia. In the pediatric control, laboratory exams revealed dyslipidemia, and a hepatic biopsy was performed, revealing severe fibrosis with septation and grade 3 microvesicular steatosis (>75%). He was referred to our center and was suspected to have lysosomal acid lipase deficiency. Enzymatic activity was measured, showing absent activity. Confirmatory diagnosis with genetic sequencing showed a pathological homozygous mutation of c.894G>A. CONCLUSIONS Lysosomal acid lipase deficiency can manifest as early- or late-onset, with variable and severe signs and symptoms. The late-onset form has a broad spectrum of manifestations with mild symptoms, leading to under-diagnosis, which increases the actual disease burden. Early diagnosis is essential to initiate enzyme replacement therapy, since the natural disease course can be changed. More studies should be conducted in Latin America to evaluate the prevalence of the disease.

Asunto(s)

Esterol Esterasa/genética , Enfermedad de Wolman/diagnóstico , Adolescente , Colombia , Hígado Graso/genética , Hepatomegalia/genética , Humanos , Masculino , Mutación , Esterol Esterasa/deficiencia , Enfermedad de Wolman/complicaciones , Enfermedad de Wolman/genética , Enfermedad de Wolman

RESUMEN

INTRODUCTION: Liver angiosarcoma is a very uncommon tumour of mesenchymal origin, representing between 0.1-2% of all primary tumours of the liver, affecting mainly men in their sixth or seventh decade of life, with a high mortality in the first years (Chaudhary et al., 2015). Literature reports of its surgical treatment vary from a total or partial hepatectomy with or without liver transplant. PRESENTATION OF CASE: A 37year old male, with a 7year history of a fatty liver, was found to have a 12cm diameter tumour in a cirrhotic liver, during an abdominal Computed Tomography (CT) scan. Patient was asymptomatic with negative tumour markers, yet tumour liver biopsy revealed a Liver Angiosarcoma with positive immunohistochemistry for neoplastic cells CD31 and CD34. Patient was deemed candidate for a partial hepatectomy of the affected liver segments which was done without complications and no evidence of other tumour lesions was found during surgery. Patient continued oncologic management with ongoing chemotherapy. DISCUSION: Liver Angiosarcoma, although rare, persists with a high mortality due to its aggressive nature. Never the less liver transplantation, although proven to be an effective treatment for many pathologies that culminate in liver failure, fails to improve patients' survival and prognosis, when compared to partial hepatectomy as surgical management to for liver Angiosarcoma, CONCLUSION: Partial hepatectomy as surgical management, followed by adjuvant therapy, for Liver Angiosarcoma continues to prove favourable results and prognosis compared to Liver Transplantation.

RESUMEN

Liver transplantation is an option that improves quality of life and prolongs life expectancy in patients with different types of liver disease. Liver transplantation is controversial for colorectal metastases and is not recommended in clinical practice guidelines. In this case report, we present, to our knowledge, the first liver transplantation for colorectal metastases conducted in Colombia, with a successful follow-up of more than 2 years. Patients with these characteristics who underwent liver transplantation experience reduced mortality and exponentially improved quality of life.